Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation

Abstract Objective This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-ca...

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Main Authors: Can Li, Lingdan Dong, Li Zhu, Wenbin Guan
Format: Article
Language:English
Published: BMC 2025-01-01
Series:World Journal of Surgical Oncology
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Online Access:https://doi.org/10.1186/s12957-025-03675-8
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author Can Li
Lingdan Dong
Li Zhu
Wenbin Guan
author_facet Can Li
Lingdan Dong
Li Zhu
Wenbin Guan
author_sort Can Li
collection DOAJ
description Abstract Objective This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon. Methods Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells). The diagnostic rate of LEF1 alone, β-catenin alone, and their combination were compared for each tumor type and all patients. Results Compared to β-catenin, when LEF1 alone was used for diagnosis, the diagnostic rate increased by 46.16% for BA, 16.67% for SPN, and 11.25% for all patients, but decreased by 23.34% for DF. The combined use of β-catenin and LEF1 significantly increased the diagnostic ratio in BA (46.16%), SPN (16.67%), and all patients (21.25%), but only marginally in DF (3.33%). In terms of all WNT pathway tumors with CTNNB1 gene mutation encompassed by our study, statistical analysis revealed no significant difference between LEF1 alone and β-catenin alone. However, their combined application was highly significant (P = 0.001) . Conclusion While β-catenin is commonly used as a marker for WNT pathway tumors, its variable expression and localization can be challenging for diagnosis. Our study emphasizes the importance of LEF1 as a complementary marker to β-catenin in diagnosing BA, DF, SPN, and other WNT pathway tumors activated by exon 3 CTNNB1 gene mutation. The combined use of LEF1 and β-catenin enhances diagnostic accuracy and may help the identification of these tumor types.
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spelling doaj-art-8da40bc7be654f8f97778f76004fc28e2025-02-02T12:27:35ZengBMCWorld Journal of Surgical Oncology1477-78192025-01-012311810.1186/s12957-025-03675-8Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutationCan Li0Lingdan Dong1Li Zhu2Wenbin Guan3Department of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Pathology, Maternal and Child health Hospital of Hubei ProvinceDepartment of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineDepartment of Pathology, Xinhua Hospital Affiliated to Shanghai Jiaotong University School of MedicineAbstract Objective This study aimed to compare the expression of lymphoid enhancer factor 1 (LEF1) and β-catenin in basal cell adenoma (BA), desmoid-type fibromatosis (DF), and pancreatic solid pseudopapillary neoplasm (SPN) to evaluate their diagnostic utility in tumors associated with the WNT/β-catenin signaling pathway harboring the mutation of CTNNB1 gene 3 exon. Methods Eighty tumor patients, including 26 BAs, 30 DFs, and 24 SPNs, were analyzed. Immunohistochemical staining was identified positive (nuclear staining of LEF1 and β-catenin in > 50% of tumor cells). The diagnostic rate of LEF1 alone, β-catenin alone, and their combination were compared for each tumor type and all patients. Results Compared to β-catenin, when LEF1 alone was used for diagnosis, the diagnostic rate increased by 46.16% for BA, 16.67% for SPN, and 11.25% for all patients, but decreased by 23.34% for DF. The combined use of β-catenin and LEF1 significantly increased the diagnostic ratio in BA (46.16%), SPN (16.67%), and all patients (21.25%), but only marginally in DF (3.33%). In terms of all WNT pathway tumors with CTNNB1 gene mutation encompassed by our study, statistical analysis revealed no significant difference between LEF1 alone and β-catenin alone. However, their combined application was highly significant (P = 0.001) . Conclusion While β-catenin is commonly used as a marker for WNT pathway tumors, its variable expression and localization can be challenging for diagnosis. Our study emphasizes the importance of LEF1 as a complementary marker to β-catenin in diagnosing BA, DF, SPN, and other WNT pathway tumors activated by exon 3 CTNNB1 gene mutation. The combined use of LEF1 and β-catenin enhances diagnostic accuracy and may help the identification of these tumor types.https://doi.org/10.1186/s12957-025-03675-8LEF1Β-cateninWNT signaling pathway tumorsCTNNB1 gene mutationImmunohistochemical marker
spellingShingle Can Li
Lingdan Dong
Li Zhu
Wenbin Guan
Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
World Journal of Surgical Oncology
LEF1
Β-catenin
WNT signaling pathway tumors
CTNNB1 gene mutation
Immunohistochemical marker
title Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
title_full Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
title_fullStr Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
title_full_unstemmed Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
title_short Diagnostic utility of LEF1 and β-catenin in WNT pathway tumors with CTNNB1 mutation
title_sort diagnostic utility of lef1 and β catenin in wnt pathway tumors with ctnnb1 mutation
topic LEF1
Β-catenin
WNT signaling pathway tumors
CTNNB1 gene mutation
Immunohistochemical marker
url https://doi.org/10.1186/s12957-025-03675-8
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